HR c.256A>T ;(p.R86W)

Variant ID: 8-21986428-T-A

NM_005144.4(HR):c.256A>T;(p.R86W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

European Heart Journal
Lopes, Luis R LR; Garcia-Hernández, Soledad S; Lorenzini, Massimiliano M; Futema, Marta M; Chumakova, Olga O; Zateyshchikov, Dmitry D; Isidoro-Garcia, Maria M; Villacorta, Eduardo E; Escobar-Lopez, Luis L; Garcia-Pavia, Pablo P; Bilbao, Raquel R; Dobarro, David D; Sandin-Fuentes, Maria M; Catalli, Claudio C; Gener Querol, Blanca B; Mezcua, Ainhoa A; Garcia Pinilla, Jose J; Bloch Rasmussen, Torsten T; Ferreira-Aguar, Ana A; Revilla-Martí, Pablo P; Basurte Elorz, Maria Teresa MT; Bautista Paves, Alicia A; Ramon Gimeno, Juan J; Figueroa, Ana Virginia AV; Franco-Gutierrez, Raul R; Fuentes-Cañamero, Maria Eugenia ME; Martinez Moreno, Marina M; Ortiz-Genga, Martin M; Piqueras-Flores, Jesus J; Analia Ramos, Karina K; Rudzitis, Ainars A; Ruiz-Guerrero, Luis L; Stein, Ricardo R; Triguero-Bocharán, Mayte M; de la Higuera, Luis L; Ochoa, Juan Pablo JP; Abu-Bonsrah, Dad D; Kwok, Cecilia Y T CYT; Smith, Jacob B JB; Porrello, Enzo R ER; Akhtar, Mohammed M MM; Jager, Joanna J; Ashworth, Michael M; Syrris, Petros P; Elliott, David A DA; Monserrat, Lorenzo L; Elliott, Perry M PM
Publication Date: 2021-08-21

Variant appearance in text: HR: Arg86Trp
PubMed Link: 34263907
Variant Present in the following documents:
  • ehab424.pdf
View BVdb publication page